Mutagenetix > Incidental Mutation

Incidental Mutation 'R2973:Ppef2'

255276

Institutional Source

Beutler Lab

Gene Symbol

Ppef2

Ensembl Gene

ENSMUSG00000029410

Gene Name

protein phosphatase, EF hand calcium-binding domain 2

Synonyms

MMRRC Submission

040526-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2973 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92226679-92256278 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92239094 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 328 (E328G)

Ref Sequence

ENSEMBL: ENSMUSP00000144157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031359] [ENSMUST00000201130]

AlphaFold

O35385

Predicted Effect

probably benign
Transcript: ENSMUST00000031359
AA Change: E328G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000031359
Gene: ENSMUSG00000029410
AA Change: E328G

Domain	Start	End	E-Value	Type
IQ	18	40	3.48e-1	SMART
PP2Ac	141	544	1.97e-118	SMART
EFh	576	604	3.25e1	SMART
EFh	660	688	5.44e-3	SMART
EFh	700	728	1.67e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000201130
AA Change: E328G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144157
Gene: ENSMUSG00000029410
AA Change: E328G

Domain	Start	End	E-Value	Type
IQ	18	40	3.48e-1	SMART
PP2Ac	141	544	1.97e-118	SMART
EFh	576	604	3.25e1	SMART
EFh	660	688	5.44e-3	SMART
EFh	700	728	1.67e0	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

98% (44/45)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein, which is expressed specifically in photoreceptors and the pineal, has been suggested to play a role in the visual system. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation appear to be phenotypically normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230104L09Rik	T	C	2: 148,850,786	D32G	probably benign	Het
Abca7	T	G	10: 80,008,967	F1508V	probably damaging	Het
Angptl7	T	A	4: 148,500,214	K26*	probably null	Het
BC048507	T	C	13: 67,863,630	I42T	probably benign	Het
Cald1	A	G	6: 34,757,996		probably benign	Het
Ces5a	A	G	8: 93,528,504	F187S	probably damaging	Het
Chd3	A	G	11: 69,360,616	Y530H	probably damaging	Het
Crnkl1	A	G	2: 145,932,261	L94P	probably benign	Het
Cst9	G	T	2: 148,835,225		probably null	Het
D930007J09Rik	C	T	13: 32,802,759		probably benign	Het
Dcaf10	T	C	4: 45,373,957	S461P	probably benign	Het
Dhx36	T	A	3: 62,495,495	N279Y	probably benign	Het
Dhx36	C	G	3: 62,495,498	G278R	possibly damaging	Het
Doxl2	A	G	6: 48,976,424	T428A	probably benign	Het
Eps8l3	T	C	3: 107,891,328	I510T	probably damaging	Het
Gab2	A	G	7: 97,223,552	E54G	probably benign	Het
Gsdme	A	G	6: 50,229,324	C180R	probably damaging	Het
Hesx1	A	G	14: 27,000,642		probably benign	Het
Il5ra	G	A	6: 106,741,235	P86L	probably benign	Het
Jakmip1	A	G	5: 37,091,527	K177R	probably damaging	Het
Larp4b	T	C	13: 9,166,311		probably benign	Het
Lrrc42	A	T	4: 107,239,114	D40E	probably damaging	Het
Mefv	G	A	16: 3,715,694	R238*	probably null	Het
Mroh9	A	T	1: 163,056,769	M400K	probably damaging	Het
Olfr1164	A	G	2: 88,093,114	L274P	probably benign	Het
Olfr204	A	C	16: 59,315,404	M1R	probably null	Het
Olfr527	T	G	7: 140,336,387	F175C	probably damaging	Het
Plec	C	G	15: 76,188,761	G631R	probably damaging	Het
Polr3b	A	G	10: 84,628,280	K35E	probably benign	Het
Rogdi	G	T	16: 5,011,662	Q90K	probably damaging	Het
Rtn1	C	A	12: 72,223,389	R116L	probably damaging	Het
Sept14	T	C	5: 129,699,022	H31R	probably benign	Het
Serpinb9e	T	A	13: 33,255,143	V184E	probably benign	Het
Slc10a5	A	T	3: 10,334,457	I381N	probably damaging	Het
Slit1	G	A	19: 41,611,016	P1032L	probably benign	Het
Sptlc3	A	G	2: 139,589,661	T368A	probably damaging	Het
Tm9sf1	T	A	14: 55,641,114	T274S	probably benign	Het
Tpgs1	A	G	10: 79,669,615	E69G	probably damaging	Het
Trpv5	T	C	6: 41,653,231	S642G	possibly damaging	Het
Ttn	A	C	2: 76,802,317	I12385S	probably damaging	Het
Ube2e2	T	C	14: 18,630,321	D137G	possibly damaging	Het
Ubr4	T	C	4: 139,406,536	Y748H	probably benign	Het
Ugt8a	T	C	3: 125,915,308	H51R	probably benign	Het
Vcp	T	A	4: 42,996,315	I16F	probably damaging	Het
Vmn2r117	A	G	17: 23,459,856	V798A	probably damaging	Het

Other mutations in Ppef2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01066:Ppef2	APN	5	92234237	missense	probably damaging	1.00
IGL01105:Ppef2	APN	5	92249196	missense	possibly damaging	0.91
IGL01613:Ppef2	APN	5	92235820	missense	probably benign	0.01
IGL01793:Ppef2	APN	5	92246756	missense	probably damaging	1.00
IGL02529:Ppef2	APN	5	92244737	missense	probably damaging	1.00
IGL02702:Ppef2	APN	5	92231819	missense	probably benign	0.01
IGL02992:Ppef2	APN	5	92235900	nonsense	probably null
IGL02995:Ppef2	APN	5	92235900	nonsense	probably null
IGL02996:Ppef2	APN	5	92235900	nonsense	probably null
IGL03169:Ppef2	APN	5	92235900	nonsense	probably null
IGL02991:Ppef2	UTSW	5	92235900	nonsense	probably null
R0494:Ppef2	UTSW	5	92253093	splice site	probably benign
R0659:Ppef2	UTSW	5	92230509	missense	probably damaging	1.00
R0781:Ppef2	UTSW	5	92244830	missense	probably benign	0.39
R1162:Ppef2	UTSW	5	92253121	missense	probably benign	0.00
R1870:Ppef2	UTSW	5	92250512	missense	probably damaging	1.00
R2212:Ppef2	UTSW	5	92228722	missense	probably damaging	0.97
R3412:Ppef2	UTSW	5	92228722	missense	probably damaging	0.97
R3413:Ppef2	UTSW	5	92228722	missense	probably damaging	0.97
R3745:Ppef2	UTSW	5	92239151	splice site	probably benign
R4878:Ppef2	UTSW	5	92228740	splice site	probably null
R5027:Ppef2	UTSW	5	92234291	missense	probably damaging	1.00
R5156:Ppef2	UTSW	5	92244602	critical splice donor site	probably null
R5316:Ppef2	UTSW	5	92235811	missense	probably benign	0.00
R5590:Ppef2	UTSW	5	92239139	missense	probably damaging	0.99
R5773:Ppef2	UTSW	5	92250561	missense	probably damaging	1.00
R5881:Ppef2	UTSW	5	92250529	nonsense	probably null
R6032:Ppef2	UTSW	5	92230524	missense	probably benign	0.23
R6032:Ppef2	UTSW	5	92230524	missense	probably benign	0.23
R6182:Ppef2	UTSW	5	92227066	missense	probably damaging	1.00
R6335:Ppef2	UTSW	5	92235754	missense	probably damaging	1.00
R6645:Ppef2	UTSW	5	92230461	missense	probably benign	0.02
R7448:Ppef2	UTSW	5	92228704	missense	probably damaging	1.00
R7576:Ppef2	UTSW	5	92253134	missense	possibly damaging	0.87
R7968:Ppef2	UTSW	5	92249163	missense	probably damaging	0.99
R7988:Ppef2	UTSW	5	92238982	missense	probably benign	0.00
R8200:Ppef2	UTSW	5	92245392	missense	probably benign	0.13
R8212:Ppef2	UTSW	5	92228665	missense	possibly damaging	0.87
R9687:Ppef2	UTSW	5	92238887	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CACTGTTCCAGTTCCAGGTC -3'
(R):5'- CAGAACAGTAGTCTGAAAGGACTTAC -3'

Sequencing Primer
(F):5'- CGCCGGGATAGCTCCTTG -3'
(R):5'- GTAGTCTGAAAGGACTTACCATTTC -3'

Posted On

2014-12-29